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P37058

- DHB3_HUMAN

UniProt

P37058 - DHB3_HUMAN

Protein

Testosterone 17-beta-dehydrogenase 3

Gene

HSD17B3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.

    Catalytic activityi

    Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei185 – 1851SubstrateBy similarity
    Active sitei198 – 1981Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi48 – 7730NADPBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. testosterone 17-beta-dehydrogenase (NADP+) activity Source: UniProtKB-EC

    GO - Biological processi

    1. androgen biosynthetic process Source: Reactome
    2. male genitalia development Source: ProtInc
    3. small molecule metabolic process Source: Reactome
    4. steroid metabolic process Source: Reactome
    5. testosterone biosynthetic process Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    BioCyciMetaCyc:HS05461-MONOMER.
    ReactomeiREACT_11059. Androgen biosynthesis.
    REACT_380. Synthesis of very long-chain fatty acyl-CoAs.
    UniPathwayiUPA00367.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Testosterone 17-beta-dehydrogenase 3 (EC:1.1.1.64)
    Alternative name(s):
    17-beta-hydroxysteroid dehydrogenase type 3
    Short name:
    17-beta-HSD 3
    Testicular 17-beta-hydroxysteroid dehydrogenase
    Gene namesi
    Name:HSD17B3
    Synonyms:EDH17B3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:5212. HSD17B3.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. intracellular membrane-bounded organelle Source: ProtInc

    Pathology & Biotechi

    Involvement in diseasei

    Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. 1 Publication
    VAR_016067
    Natural varianti65 – 651S → L in MPH. 1 Publication
    VAR_016068
    Natural varianti80 – 801R → Q in MPH; Gaza. 1 Publication
    VAR_006953
    Natural varianti80 – 801R → W in MPH. 1 Publication
    VAR_006954
    Natural varianti130 – 1301N → S in MPH; Cambridge-1. Complete loss of activity. 1 Publication
    VAR_016069
    Natural varianti176 – 1761Q → P in MPH. 1 Publication
    VAR_016070
    Natural varianti203 – 2031A → V in MPH. 1 Publication
    VAR_006955
    Natural varianti205 – 2051V → E in MPH. 1 Publication
    VAR_016071
    Natural varianti208 – 2081F → I in MPH. 1 Publication
    VAR_016072
    Natural varianti215 – 2151E → D in MPH. 1 Publication
    VAR_016203
    Natural varianti232 – 2321S → L in MPH. 1 Publication
    Corresponds to variant rs28939085 [ dbSNP | Ensembl ].
    VAR_006956
    Natural varianti235 – 2351M → V in MPH. 1 Publication
    VAR_006957
    Natural varianti268 – 2681C → Y in MPH; complete loss of activity. 1 Publication
    VAR_016073
    Natural varianti282 – 2821P → L in MPH. 1 Publication
    VAR_016074

    Keywords - Diseasei

    Disease mutation, Pseudohermaphroditism

    Organism-specific databases

    MIMi264300. phenotype.
    Orphaneti752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
    PharmGKBiPA29480.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 310310Testosterone 17-beta-dehydrogenase 3PRO_0000054573Add
    BLAST

    Proteomic databases

    PaxDbiP37058.
    PRIDEiP37058.

    PTM databases

    PhosphoSiteiP37058.

    Expressioni

    Tissue specificityi

    Testis.

    Gene expression databases

    ArrayExpressiP37058.
    BgeeiP37058.
    CleanExiHS_HSD17B3.
    GenevestigatoriP37058.

    Organism-specific databases

    HPAiHPA015307.

    Interactioni

    Protein-protein interaction databases

    IntActiP37058. 1 interaction.
    STRINGi9606.ENSP00000364412.

    Structurei

    3D structure databases

    ProteinModelPortaliP37058.
    SMRiP37058. Positions 48-228.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0300.
    HOGENOMiHOG000039237.
    HOVERGENiHBG005478.
    InParanoidiP37058.
    KOiK10207.
    OMAiCLACLAK.
    OrthoDBiEOG7CZK63.
    PhylomeDBiP37058.
    TreeFamiTF314591.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEiPS00061. ADH_SHORT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW    50
    AVITGAGDGI GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV 100
    KIIQADFTKD DIYEHIKEKL AGLEIGILVN NVGMLPNLLP SHFLNAPDEI 150
    QSLIHCNITS VVKMTQLILK HMESRQKGLI LNISSGIALF PWPLYSMYSA 200
    SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN TNVITKTADE 250
    FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV 300
    AYLKLNTKVR 310
    Length:310
    Mass (Da):34,516
    Last modified:November 1, 1995 - v2
    Checksum:i0643FF35ED979185
    GO
    Isoform 2 (identifier: P37058-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         225-274: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:260
    Mass (Da):29,109
    Checksum:i81CBF73E81169EF1
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311V → I.1 Publication
    Corresponds to variant rs2066480 [ dbSNP | Ensembl ].
    VAR_014870
    Natural varianti56 – 561A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. 1 Publication
    VAR_016067
    Natural varianti65 – 651S → L in MPH. 1 Publication
    VAR_016068
    Natural varianti80 – 801R → Q in MPH; Gaza. 1 Publication
    VAR_006953
    Natural varianti80 – 801R → W in MPH. 1 Publication
    VAR_006954
    Natural varianti130 – 1301N → S in MPH; Cambridge-1. Complete loss of activity. 1 Publication
    VAR_016069
    Natural varianti176 – 1761Q → P in MPH. 1 Publication
    VAR_016070
    Natural varianti203 – 2031A → V in MPH. 1 Publication
    VAR_006955
    Natural varianti205 – 2051V → E in MPH. 1 Publication
    VAR_016071
    Natural varianti208 – 2081F → I in MPH. 1 Publication
    VAR_016072
    Natural varianti215 – 2151E → D in MPH. 1 Publication
    VAR_016203
    Natural varianti232 – 2321S → L in MPH. 1 Publication
    Corresponds to variant rs28939085 [ dbSNP | Ensembl ].
    VAR_006956
    Natural varianti235 – 2351M → V in MPH. 1 Publication
    VAR_006957
    Natural varianti268 – 2681C → Y in MPH; complete loss of activity. 1 Publication
    VAR_016073
    Natural varianti282 – 2821P → L in MPH. 1 Publication
    VAR_016074
    Natural varianti289 – 2891G → C.
    Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
    VAR_061844
    Natural varianti289 – 2891G → R.
    Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
    VAR_061845
    Natural varianti289 – 2891G → S.2 Publications
    Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
    VAR_014871

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei225 – 27450Missing in isoform 2. 1 PublicationVSP_056640Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05659 mRNA. Translation: AAC50066.1.
    AY341031 Genomic DNA. Translation: AAP88937.1.
    BT019371 mRNA. Translation: AAV38178.1.
    AL160269 Genomic DNA. No translation available.
    BC034281 mRNA. Translation: AAH34281.1.
    CCDSiCCDS6716.1.
    PIRiS43928.
    RefSeqiNP_000188.1. NM_000197.1.
    UniGeneiHs.477.

    Genome annotation databases

    EnsembliENST00000375262; ENSP00000364411; ENSG00000130948.
    ENST00000375263; ENSP00000364412; ENSG00000130948.
    GeneIDi3293.
    KEGGihsa:3293.
    UCSCiuc004awa.1. human.

    Polymorphism databases

    DMDMi1169300.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05659 mRNA. Translation: AAC50066.1 .
    AY341031 Genomic DNA. Translation: AAP88937.1 .
    BT019371 mRNA. Translation: AAV38178.1 .
    AL160269 Genomic DNA. No translation available.
    BC034281 mRNA. Translation: AAH34281.1 .
    CCDSi CCDS6716.1.
    PIRi S43928.
    RefSeqi NP_000188.1. NM_000197.1.
    UniGenei Hs.477.

    3D structure databases

    ProteinModelPortali P37058.
    SMRi P37058. Positions 48-228.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P37058. 1 interaction.
    STRINGi 9606.ENSP00000364412.

    Chemistry

    BindingDBi P37058.
    ChEMBLi CHEMBL4234.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei P37058.

    Polymorphism databases

    DMDMi 1169300.

    Proteomic databases

    PaxDbi P37058.
    PRIDEi P37058.

    Protocols and materials databases

    DNASUi 3293.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375262 ; ENSP00000364411 ; ENSG00000130948 .
    ENST00000375263 ; ENSP00000364412 ; ENSG00000130948 .
    GeneIDi 3293.
    KEGGi hsa:3293.
    UCSCi uc004awa.1. human.

    Organism-specific databases

    CTDi 3293.
    GeneCardsi GC09M098998.
    HGNCi HGNC:5212. HSD17B3.
    HPAi HPA015307.
    MIMi 264300. phenotype.
    605573. gene.
    neXtProti NX_P37058.
    Orphaneti 752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
    PharmGKBi PA29480.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0300.
    HOGENOMi HOG000039237.
    HOVERGENi HBG005478.
    InParanoidi P37058.
    KOi K10207.
    OMAi CLACLAK.
    OrthoDBi EOG7CZK63.
    PhylomeDBi P37058.
    TreeFami TF314591.

    Enzyme and pathway databases

    UniPathwayi UPA00367 .
    BioCyci MetaCyc:HS05461-MONOMER.
    Reactomei REACT_11059. Androgen biosynthesis.
    REACT_380. Synthesis of very long-chain fatty acyl-CoAs.

    Miscellaneous databases

    GeneWikii HSD17B3_(gene).
    GenomeRNAii 3293.
    NextBioi 13063.
    PROi P37058.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P37058.
    Bgeei P37058.
    CleanExi HS_HSD17B3.
    Genevestigatori P37058.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEi PS00061. ADH_SHORT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3."
      Geissler W.M., Davis D.L., Wu L., Bradshaw K.D., Patel S., Mendonca B.B., Elliston K.O., Wilson J.D., Russell D.W., Andersson S.
      Nat. Genet. 7:34-39(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235.
      Tissue: Testis.
    2. NIEHS SNPs program
      Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-31 AND SER-289.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    6. Cited for: VARIANTS MPH LEU-65; PRO-176; GLU-205; ILE-208; ASP-215 AND LEU-282.
    7. "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism."
      Bilbao J.R., Loridan L., Audi L., Gonzalo E., Castano L.
      Eur. J. Endocrinol. 139:330-333(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MPH TRP-80.
    8. "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)."
      Moghrabi N., Hughes I.A., Dunaif A., Andersson S.
      J. Clin. Endocrinol. Metab. 83:2855-2860(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MPH THR-56 AND SER-130, VARIANT SER-289.
    9. "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency."
      Lindqvist A., Hughes I.A., Andersson S.
      J. Clin. Endocrinol. Metab. 86:921-923(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MPH TYR-268.

    Entry informationi

    Entry nameiDHB3_HUMAN
    AccessioniPrimary (citable) accession number: P37058
    Secondary accession number(s): Q5U0Q6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 147 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3